Infantile Pompe's disease, lipid storage, and partial carnitine deficiency

✍ Scribed by MD M. Anthony Verity

• Book ID: 102956696
• Publisher: John Wiley and Sons
• Year: 1991
• Tongue: English
• Weight: 760 KB
• Volume: 14
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/mus.880140509

✦ Synopsis

A diagnosis of infantile Pompe's disease (glycogenosis type II) was made by muscle biopsy on a 6-month-old infant boy seen with hypotonia, weakness, and developmental regression. Histochemistry and electron microscopy revealed a vacuolar myopathy with massive glycoge accumulation associated with increased neutral lipid as demonstrated on Oil Red 0 reactions. Pleomorphic, hypertrophic mitochondria with distortion of cristae and electron-dense deposits within the matrix were identified. Acid a-l,4glucosidase activity was absent but associated with increased neutral maltase activity and a variable compensatory rise in activity of other lyso-soma1 enzymes. Biochemical studies demonstrated low free carnitine, normal acylcarnitine, increased activity of carnitine palmityl and acyl transferases, and other enzymes of poxidation with the notable exception of low normal p-hydroxyacyl-CoA dehydrogenase activity. The explanation for the lipid accumulation is uncertain but is likely related to the combination of low carnitine concentration in muscle, low P-hydroxyacyl CoA dehydrogenase, representing a rate limiting enzyme of p-oxidation, and nonspecific defective mitochondria1 function.